Article
De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
American journal of medical genetics. Part A - 1 Jun 2022
Gracie Sara, Sengupta Nivedita, Ferreira Carlos, Pemberton Joshua, Anderson Ilse, Wang Xin, Rhodes Lindsay, Brown Kathleen, Balla Tamas, Larson Austin
Abstract excerpt
Heterozygous de novo missense pathogenic variants in PTDSS1 that result in gain-of-function of phosphatidylserine synthase 1 are associated with Lenz-Majewski hyperostotic dwarfism (LMHD). We identified the novel heterozygous de novo variant p.(Leu137Phe) in PTDSS1 in a child with mild-to-moderate developmental delay. Skeletal survey revealed no evidence of LMHD in this patient. Functional assessment of the...
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